RESUMEN
Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic dysfunction where the body "forgets to breathe". The primitive responses to hypoxia and hypercapnia are sluggish to absent. Since, it was first described in 1970, not much has been discovered about its etiology and pathophysiology except its relationship with PHOX2B gene mutations and associations with disorders of neural crest origin like Hirschprung's Disease. Here, we describe such a case where the diagnosis of anything other than CCHS seems unlikely.
Asunto(s)
Enfermedades en Gemelos/congénito , Enfermedades del Prematuro/diagnóstico , Apnea Central del Sueño/congénito , Sistema Nervioso Autónomo/fisiopatología , Diagnóstico Diferencial , Enfermedades en Gemelos/diagnóstico , Enfermedades en Gemelos/fisiopatología , Enfermedades en Gemelos/terapia , Humanos , Lactante , Recién Nacido , Enfermedades del Prematuro/fisiopatología , Enfermedades del Prematuro/terapia , Masculino , Respiración con Presión Positiva , Apnea Central del Sueño/diagnóstico , Apnea Central del Sueño/fisiopatología , Apnea Central del Sueño/terapia , TraqueostomíaRESUMEN
Superior Mesenteric Artery Syndrome is an atypical cause of high intestinal obstruction seen frequently in patients with rapid weight loss or immobilization in a body cast (\also called CAST Syndrome). The SMA impinges on the third part of the duodenum immediately after originating from the anterior aspect of aorta, making an abnormally narrow angle with the later. Intestinal obstruction results causing characteristic symptoms like postprandial epigastric pain, eructations, fullness and vomiting. Here we report such a case of SMA syndrome in a patient with history of rapid loss of weight.
Asunto(s)
Síndrome de la Arteria Mesentérica Superior/diagnóstico , Niño , Humanos , Masculino , Síndrome de la Arteria Mesentérica Superior/terapiaRESUMEN
A six years old female had high-grade fever and two episodes of focal convulsions. Systemic examination was normal. Widal test was repeatedly positive. MRI-brain showed bilateral cerebritis. Blood antibody titers against brucella were positive. She responded to 6 months therapy with doxycycline, rifampicin and gentamicin replaced with streptomycin after 21 days.
Asunto(s)
Brucelosis/diagnóstico , Enfermedades del Sistema Nervioso/microbiología , Brucelosis/tratamiento farmacológico , Niño , Femenino , Humanos , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/tratamiento farmacológicoRESUMEN
PIP: AIDS is spreading epidemically across India despite Indian Council of Medical Research reports that only 6683 people in the country are HIV-seropositive. The first seropositive pregnant woman was reported in 1986 and the first seropositive infant was reported October 1987. Seropositivity has increased across the board ever since. The clinical course of perinatal HIV infection varies according to latency period, age of onset, signs and symptoms at presentation, and the degree of neurological manifestations. This paper reports findings from the diagnosis, treatment, and subsequent autopsy of the first reported case of perinatally acquired AIDS in India. The four kilogram weight patient presented to an outpatient department on June 19, 1990, at age one month from an orphanage with abdominal distension and loose motions of unknown duration. The child was in poor general condition with no available detailed history. Physicians would be ill advised to diagnose AIDS in infants based solely upon the presence of antibodies to HIV in subjects' bloodstreams. It is certainly possible that such antibodies simply result from the passive transfer of maternal antibodies. The possibility of AIDS-related complex was, however, considered with this infant given the presence of extensive oropharyngeal and perianal candidiasis, chronic diarrhea, failure to thrive, recurrent bacterial infections with laboratory evidence of lymphocytopenia, and the clinical course of the baby. The infant died at the age of 47 days. Post-mortem histologic evidence of lymphocytic depletion in the thymus and spleen and Peyer's patches of gastrointestinal tract suggest an AIDS diagnosis. Greater suspicion of AIDS in infants presenting with multiple opportunistic infections and unusual disease courses could potentially lead to the diagnosis of many more cases of AIDS in the country.^ieng